medigraphic.com
ISSN 1029-3019 (Electronic)

2022, Number 03

<< Back Next >>

MediSan 2022; 26 (03)

Klippel-Feil syndrome in an infant

Santana HEE, Tamayo CVJ, González AAM

Language: Spanish
References: 10
Page:
PDF size: 624.88 Kb.


ABSTRACT

The case report of an 11 months infant is presented, who was referred to the Clinical Genetics Service of the Medical Genetics Provincial Center in Holguín province, due to facial dysmorphias associated with motor retardation, short neck and decreasing movements. Interrogation, exhaustive physical exam and radiological studies of cervical column were carried out that showed the fusion of cervical vertebras, which allowed to diagnose the Klippel-Feil syndrome. A qualification with exercises was projected to strengthen the paravertebral muscles and genetic advice to the family was provided.


REFERENCES

  1. Power BD, Walsh KP, Awan A, Waldron M, O'Grady MJ. Klippel-Feil syndrome as a novel feature of Schimke immunoosseous dysplasia. Am J Med Genet A. 2019 [citado 02/04/2021]; 179 (5). Disponible en: https://www.ncbi.nlm.nih.gov/pubmed/307841911.

  2. Gruber J, Saleh A, Bakhsh W, Rubery PT, Mesfin A. The prevalence of Klippel-Feil syndrome: A computed tomography-based analysis of 2,917 patients. Spine Deform. 2018 [citado 20/09/2021] 6 (4): 448-53. Disponible en: https://www.ncbi.nlm.nih.gov/pubmed/298869182. .

  3. Ballhause TM, Velickovic M, Thiesen DM, Dreimann M. Congenital deformation of the posterior arch of the atlas: Subluxation of the atlanto-axial joint with temporary quadriplegia. SAGE Open Med Case Rep. 2019 [citado 02/04/2021]; 7. Disponible en: https://www.ncbi.nlm.nih.gov/pubmed/307193043. .

  4. Mubarak AI, Morani AC. Anomalous vertebral arteries in Klippel-Feil syndrome with occipitalized atlas: CT angiography. Radiol Case Rep. 2018 [citado 20/06/2021] 13 (2): 434-6. Disponible en: https://www.ncbi.nlm.nih.gov/pubmed/299044914.

  5. Rizvi A, Iwanaga J, Oskouian RJ, Loukas M, Tubbs RS. The course of the V2 segment of the vertebral arteries in Klippel-Feil syndrome: A case report. Cureus. 2018 [citado 02/04/2021]; 10 (7): e3038. Disponible en: https://www.ncbi.nlm.nih.gov/pubmed/302587375.

  6. Menger RP, Rayi A, Notarianni C. Klippel Feil Syndrome. StatPearls. Treasure Island (FL): StatPearls Publishing. 2021 [citado 02/04/2021]. Disponible en: https://www.ncbi.nlm.nih.gov/pubmed/296302096.

  7. Frikha R. Klippel-Feil syndrome: a review of the literature. Clin Dysmorphol. 2020 [citado 03/09/2021] 29 (1): 35-7. Disponible en: https://www.ncbi.nlm.nih.gov/pubmed/315775457.

  8. Georgiev GP, Groudeva V. Klippel-Feil syndrome with sprengel deformity. J Radiol Case Rep. 2019 [citado 15/06/2021] 13 (5): 24-9. Disponible en: https://www.ncbi.nlm.nih.gov/pubmed/315589568.

  9. Zhou PL, Poorman GW, Wang C, Pierce KE, Bortz CA, Alas H, et al. Klippel-Feil: A constellation of diagnoses, a contemporary presentation, and recent national trends.J Craniovertebr Junction Spine. 2019 [citado 23/04/2021] 10 (3): 133-8. Disponible en: https://www.ncbi.nlm.nih.gov/pubmed/317724249.

  10. Solis Cartas U, Prada Hernández DM, Morejón Gómez JA, De Armas Hernández A, Amador García DM. Espondilitis Anquilosante y Síndrome de Klippel-Feil. Una asociación infrecuente. Rev Cuba Reumatol. 2015; 17(supl.1). Disponible en: http://scielo.sld.cu/scielo.php?script=sci_arttext&pid=S1817-5996201500030000410.




2020     |     www.medigraphic.com